Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfallApparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfallABCA12遺伝子の点変異と重複するエクソン欠損変異の複合ヘテロ接合体におけるapparent homozygosity